Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.200 | 14 | 67823627 | splice region variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||
|
14 | 68346398 | intron variant | T/C | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
14 | 68346398 | intron variant | T/C | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 14 | 68295488 | intron variant | G/A;C;T | snv |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 14 | 68286570 | intron variant | T/G | snv | 0.68 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.320 | 14 | 68283210 | intron variant | G/A | snv | 0.43 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
14 | 68054189 | intron variant | G/A | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.851 | 0.200 | 14 | 68286876 | intron variant | C/T | snv | 0.57 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 14 | 68301255 | intron variant | G/T | snv | 0.69 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 14 | 68205006 | intron variant | C/A | snv | 0.17 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 14 | 68221985 | intron variant | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 14 | 68221922 | intron variant | T/C | snv | 0.18 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 14 | 68200005 | intron variant | T/C | snv | 0.15 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 14 | 68201782 | intron variant | C/A | snv | 0.17 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 14 | 68201811 | intron variant | C/T | snv | 0.15 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 14 | 68205986 | intron variant | G/A | snv | 0.17 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 14 | 68206362 | intron variant | T/C | snv | 0.15 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 14 | 68206400 | intron variant | G/A | snv | 0.17 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 14 | 68206609 | intron variant | G/A | snv | 0.17 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 14 | 68206672 | intron variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 14 | 68207127 | intron variant | T/C | snv | 0.18 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 14 | 68207168 | intron variant | T/C | snv | 0.15 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 |